August 2014 in “Springer eBooks” This article proposes that the combined genetic factor of filaggrin deficiency and environmental factor of staphylococcal biofilms contribute to the development of eczema and ichthyosis vulgaris, but reports no new clinical findings.
12 citations
,
March 1981 in “International Journal of Dermatology” This case study reports that selenium shampoo, bacterial infection with trichomycosis axillaris, and possibly strongyloides larvae may have contributed to acquired hair shaft abnormalities resembling trichorrhexis nodosa in two patients.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
1 citations
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August 2015 in “Experimental Dermatology” This review discusses the roles of KIT and mast cells in skin physiology and pathology using different genetic models and reports no new clinical results; the authors suggest further exploration of KIT deficiency.
2 citations
,
March 2017 in “Sultan Qaboos University medical journal” This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
2 citations
,
January 2017 in “Journal of Pigmentary Disorders” This study explores the complex and not yet fully understood causes of premature hair greying, noting genetic factors such as Pax3 and MITE genes, potential defects in melanin transfer, and associations with certain syndromes, while stating that effective treatments are currently lacking.
August 2026 in “Nature Communications” This study found that early mitochondrial reprogramming, specifically through fatty acid oxidation fueling oxidative phosphorylation, is crucial for initiating differentiation in epidermal stem cells, highlighting a potential therapeutic target for differentiation defects in skin disorders.
6 citations
,
May 1993 in “Archives of Disease in Childhood” Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
46 citations
,
January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Insig deficiency in the skin of mice causes cholesterol precursors to accumulate, leading to defective hair development and skin abnormalities, which were alleviated by simvastatin treatment.
7 citations
,
February 2024 in “The Journal of Physiology” This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.
4 citations
,
October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
3 citations
,
October 2021 in “Turkish Journal Of Neurology” This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
This abstract provides contact information for Dr. Ban Kamoona at the Medical University – Sofia and contains no research findings.
May 2026 in “JID Innovations” This study found a significant overlap between gene expression signatures of alopecia areata and certain chronic inflammatory skin disorders, suggesting shared biological processes may drive their co-occurrence and providing a foundation for future research into distinct comorbid subtypes.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that spontaneously mutated mice with a hair loss phenotype exhibited significant differential expression of genes related to keratinization and hair follicle formation, suggesting these mice could model human alopecia for future research and treatment development.
2 citations
,
December 2013 in “Veterinary dermatology” This study describes three adult dogs with sebaceous gland dysplasia, reporting that two showed moderate to marked improvement in symptoms with treatment, though ongoing management is required as the condition cannot be cured.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
September 2024 in “Journal of Investigative Dermatology” This study developed a deep learning-based tool to quantify individual hair fibers in mice, revealing distinct hair phenotypes linked to hormonal, genetic, and age-related factors, and suggesting its potential for new diagnostic methods through hair analysis.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
7 citations
,
February 2019 in “International Journal of Dermatology” This review discusses factors influencing hair pigmentation and the etiology of canities, noting the lack of clarity in underlying mechanisms and calling for further research on treatment options.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
June 2021 in “Dermatology Online Journal” This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.
854 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This review summarizes recent advances in understanding the molecular mechanisms of hair follicle formation and discusses potential future clinical applications for treating hair loss and skin tumors, but it reports no new clinical results.